ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.1601G>A (p.Arg534His)

gnomAD frequency: 0.00025  dbSNP: rs142165052
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001359482 SCV001555355 likely benign not provided 2023-12-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001359482 SCV003916237 benign not provided 2023-03-01 criteria provided, single submitter clinical testing FN1: BS1, BS2

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.